短串联重复序列相关神经肌肉病临床及机制研究进展  

Clinical and mechanism research progress on short tandem repeat⁃related neuromuscular diseases

作　　者：万雅兰 于佳希 邓健文 洪道俊[2] 王朝霞[1] WAN Ya‑lan;YU Jia‑xi;DENG Jian‑wen;HONG Dao‑jun;WANG Zhao‑xia(Department of Neurology,Peking University First Hospital,Beijing 100034,China;Department of Neurology,the First Affiliated Hospital of Nanchang University,Nanchang 330006,Jiangxi,China)

机构地区：[1]北京大学第一医院神经内科,100034 [2]南昌大学附属第一医院神经内科,330006

出　　处：《中国现代神经疾病杂志》2023年第9期775-781,共7页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：国家自然科学基金资助项目(项目编号:82071409);国家自然科学基金资助项目(项目编号:U20A20356);国家自然科学基金资助项目(项目编号:82171846);北京市科技新星计划(项目编号:2022018);首都卫生发展科研专项青年优才项目(项目编号:首发2022-4-40716)。

摘　　要：短串联重复序列(STR)是人类基因组的构成部分,其重复次数易在DNA复制过程中发生变化,当重复次数超过一定阈值时可导致疾病的发生,其中大多数累及神经系统。随着第三代长读长测序技术的迅速发展和广泛应用,越来越多的神经肌肉病被证实与STR异常扩增有关。本文综述STR相关神经肌肉病的临床和机制研究进展,以为临床研究提供指导。Short tandem repeat(STR)is a component of the human genome,the number of repeats of STR is prone to change during DNA replication,and when it exceeds a certain threshold,it will lead to the occurrence of diseases,most of which involve the nervous system.With the rapid development and wide application of the third generation long read long sequencing technology,more and more neuromuscular diseases have been confirmed to be related to STR variation.This article reviews the clinical and mechanism research progress on STR‑related neuromuscular diseases,so as to provide guidance for clinical research.

关 键 词：神经肌肉疾病 微卫星重复 综述 

分 类 号：R746[医药卫生—神经病学与精神病学]